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Article

Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.

Clinical genetics - 1 Aug 2021

Majethia Purvi, Somashekar Puneeth Hirivate, Hebbar Malavika, Kadavigere Rajagopal, Praveen Balike Krishna, Girisha Katta Mohan, Shukla Anju

Abstract excerpt

The glycine cleavage system H protein (GCSH) is an integral part of the glycine cleavage system with its additional involvement in the synthesis and transport of lipoic acid. We hypothesize that pathogenic variants in GCSH can cause variant nonketotic hyperglycinemia (NKH), a heterogeneous group of disorders with findings resembling a combination of severe NKH (elevated levels of glycine in plasma and CSF,...

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Identifiers

PMID: 33890291
DOI: 10.1111/cge.13970
PMCID: PMC9990824

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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